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Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...
GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...
Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifi ...
A New Look at Civic Design reflects on the nature of the various crises facing the very idea of democracy today, explicitly in relation to climate change - namely mass extinctions, water scarcity and overabundance, and in general widespread and increasing ...
Stroke is the main source of long-lasting disability, affecting dominantly motor functions. The extent and course of recovery are highly heterogeneous between patients, with a minority of patients fully recovering from their initial impairments, leaving 85 ...
Peripheral neural interfaces have been successfully used in the recent past to restore sensory-motor functions in disabled subjects and for the neuromodulation of the autonomic nervous system. The optimization of these neural interfaces is crucial for ethi ...
Down syndrome (DS) is caused by the triplication of human chromosome 21, and it is the most frequent genetic cause of cognitive disabilities. Although numerous studies have shown that cognitive impairment possibly arises from dysfunction of the hippocampal ...
To assist people with disabilities, exoskeletons must be provided with human-machine interfaces (HMI) capable to identify the user's intentions and enable cooperative interaction. Electromyographic (EMG) signals could be suitable for this purpose, but thei ...
Despite more than thirty-five years of research on wearable technologies to assist the upper-limb and a multitude of promising preliminary results, the goal of restoring pre-impairment quality of life of people with physical disabilities has not been fully ...
Mobility impairments are the most prevalent of all disabilities, affecting the life of nearly one in 20 individuals in developed countries. In the most severe cases, they can have dramatic consequences for the social, mental and physical well-being of thos ...